Scheuerle A, Greenberg F, McCabe E R
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
J Pediatr. 1995 May;126(5 Pt 1):764-7. doi: 10.1016/s0022-3476(95)70409-4.
Complex glycerol kinase deficiency is a contiguous gene syndrome consisting of a deletion of the glycerol kinase locus, together with the genes for adrenal hypoplasia congenita or Duchenne muscular dystrophy or both. We describe an infant with complex glycerol kinase deficiency and mildly dysmorphic features similar to those seen in other patients, including an "hourglass" appearance of the middle of the face; hypertelorism; rounded palpebral fissures; esotropia; wide, flattened earlobes; and a downturned mouth. The combination of medical history and characteristic facies should prompt the request for specific laboratory tests diagnostic for this potentially treatable condition.
复杂型甘油激酶缺乏症是一种连续性基因综合征，由甘油激酶基因座缺失以及先天性肾上腺发育不全或杜氏肌营养不良症的基因缺失或两者皆有组成。我们描述了一名患有复杂型甘油激酶缺乏症的婴儿，其具有与其他患者相似的轻度畸形特征，包括面部中部呈“沙漏”状外观；眼距过宽；睑裂圆润；内斜视；耳垂宽且扁平；以及嘴角下垂。病史和特征性面容的组合应促使要求进行针对这种潜在可治疗病症的特定实验室检查。
